Variant Details

Variant: esv2760858

Internal ID

10377165

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:105430297..105455040	hg38	UCSC Ensembl
Inner	chr4:106351454..106376197	hg19	UCSC Ensembl
Inner	chr4:106570903..106595646	hg18	UCSC Ensembl

Cytoband

4q24

Allele length

Assembly	Allele length
hg38	24744
hg19	24744
hg18	24744

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7011485, essv7011486

Samples

RW_0094, RW_0029

Known Genes

PPA2

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

esv2760858

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	2
Observed Complex	0
Frequency	n/a